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John Hopkins Develops An Online Tool To Help In Research Of Certain Rare Diseases

l', an evolutionary relic from our progenitors. But a small band of investigators, including Katsanis at Hopkins, have begun to assign function to cilia in numerous cell types in the human body and speculate that 'anything so highly conserved by evolution is likely critical for survival.'

Work by Katsanis' group as well as others in the field shows that more than 1,000 genes are known to play a role in cilia. Some genes contribute to their structure, others contribute to function and yet others only have been implicated in some sort of cilia-related role.

'There's a lot we still don't know about cilia, and much work needs to be done,' says Katsanis. 'But this new database consolidates a considerable volume of knowledge floating around out there, and we hope it will focus not only our research but others, as well to speed our way to better treating these patients.'

Bardet-Biedl, Alstrom and Meckel-Gruber patients share similar symptoms, including kidney problems, vision problems and cognitive dysfunction.

Although all are marked by aberrant cilia, the different symptoms associated with each syndrome affect individual patients differently. Many patients first go to the doctor because they experience vision problems, and they are treated for those vision problems. But the patients may be unaware that they are experiencing other problems - dubbed sub-clinical - such as slow kidney failure.

Studying the genes involved is expected to shed light on how cilia function. And a better understanding of normal cilia function, according to Katsanis, will lead to a better understanding of what goes wrong when cilia don't function. 'Having a good handle on genes may lead to future genetic tests that can help doctors better diagnose and treat these syndromes,' he says.

'Studying the genetics, heritability and molecular underpinnings of Bardet-Biedl syndrome uncovered the role of cilia in this and other syndromes
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